A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365476



Internal ID14865736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60990658..60991037hg38UCSC Ensembl
Innerchr11:60990821..60990874hg38UCSC Ensembl
Outerchr11:60990495..60991200hg38UCSC Ensembl
chr11:60758130..60758509hg19UCSC Ensembl
Innerchr11:60758293..60758346hg19UCSC Ensembl
Outerchr11:60757967..60758672hg19UCSC Ensembl
chr11:60514706..60515085hg18UCSC Ensembl
Innerchr11:60514869..60514922hg18UCSC Ensembl
Outerchr11:60514543..60515248hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38380
hg19380
hg18380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670509, essv8670507
SamplesNA19239, NA12878
Known GenesCD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365476
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer